Granulomatöse Dermatitis bei einem 5 Monate alten Mädchen mit Omenn-Syndrom (atypisches SCID)

Bleuel, R.; Zink, A.; Biedermann, T. und Hauck, F. (2019): Granulomatöse Dermatitis bei einem 5 Monate alten Mädchen mit Omenn-Syndrom (atypisches SCID). In: Aktuelle Dermatologie, Vol. 45, No. 8/9: pp. 406-409

Abstract

In dermatology, we may be confronted with severe combined immune deficiency syndromes. Early diagnosis and referral to specialized centers is crucial for the prognosis. We describe a girl aged 5 months at diagnosis with an Omenn syndrome due to an atypical severe combined immunodeficiency (SCID). Clinical manifestations were a dermatitis, a chronic, antibiotic-resistant respiratory tract infection and inflammatory bowel disease. Routine laboratory tests revealed mild lymphocytopenie with eosinophilia and elevated IgE. After inclusion in the national patient centered project Translate-NAMSE specialized immunological investigations diagnosed an atypical T (low) B (low) NK (+) SCID caused by hypomorphic homozygous IL7RA mutation and a curative haploidentic allogeneic hematopoetic stem cell transplantation was started.

• Item Type: Journal article
• Faculties: Medicine
• Subjects: 600 Technology > 610 Medicine and health
• ISSN: 0340-2541
• Language: German